Genetic abnormalities of male infertility

Infertility represents a major public health concern, affecting approximately 15% of couples worldwide, with male factors contributing to more than half of all cases. Optimizing clinical management therefore necessitates a comprehensive understanding of the underlying pathophysiological mechanisms, not only to refine diagnostic stratification but also to advance therapeutic strategies—particularly in the context of medically assisted reproduction. Nevertheless, for a long time, no causal explanation was found in almost half of the cases of male infertility. This mainly concerns the most severe cases, where the available treatments remain ineffective. Scientists believed that in idiopathic infertility there are often underlying genetic causes. But the patients were under-explored and the genetic tests carried out were essentially limited to karyotype and old molecular biology techniques. Recently, the development and cost reduction of next-generation sequencing has enabled the identification of dozens of genes implicated in male infertility. 

This summary review of the literature reports the various chromosomal and gene abnormalities strongly correlated with syndromic and non-syndromic male infertility, depending on the level of impairment (central, primary testicular or post-testicular); and according to the nature of the abnormalities found in the spermogram – spermocytogram. Its results help to predict the chances of success of treatments and make it possible to better assess the potential risks to the health of the patient and his possible offspring in order to provide adequate genetic counseling.